Incidental Mutation 'R8069:Tbc1d2'
ID 620154
Institutional Source Beutler Lab
Gene Symbol Tbc1d2
Ensembl Gene ENSMUSG00000039813
Gene Name TBC1 domain family, member 2
Synonyms PARIS-1, LOC381605, PARIS1, A630005A06Rik
MMRRC Submission 067504-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R8069 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 46604390-46650209 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 46649737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 100 (C100G)
Ref Sequence ENSEMBL: ENSMUSP00000081670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084621] [ENSMUST00000107750]
AlphaFold B1AVH7
Predicted Effect possibly damaging
Transcript: ENSMUST00000084621
AA Change: C100G

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000081670
Gene: ENSMUSG00000039813
AA Change: C100G

DomainStartEndE-ValueType
PH 44 143 1.94e-11 SMART
low complexity region 147 159 N/A INTRINSIC
low complexity region 165 180 N/A INTRINSIC
low complexity region 189 206 N/A INTRINSIC
coiled coil region 302 333 N/A INTRINSIC
coiled coil region 362 394 N/A INTRINSIC
low complexity region 398 410 N/A INTRINSIC
Blast:TBC 454 491 3e-14 BLAST
low complexity region 526 539 N/A INTRINSIC
Blast:TBC 557 591 3e-10 BLAST
TBC 616 834 1.63e-60 SMART
coiled coil region 869 906 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107750
AA Change: C100G

PolyPhen 2 Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103379
Gene: ENSMUSG00000039813
AA Change: C100G

DomainStartEndE-ValueType
PH 44 143 1.94e-11 SMART
low complexity region 147 159 N/A INTRINSIC
low complexity region 165 180 N/A INTRINSIC
low complexity region 189 206 N/A INTRINSIC
low complexity region 220 231 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt T A 9: 4,296,823 (GRCm39) D261V probably benign Het
Abca8a T C 11: 109,980,876 (GRCm39) Y54C probably damaging Het
Adad2 T C 8: 120,342,746 (GRCm39) S431P probably benign Het
Adam18 A G 8: 25,118,246 (GRCm39) Y557H possibly damaging Het
Adam5 C T 8: 25,303,541 (GRCm39) E129K probably damaging Het
Adgra2 T C 8: 27,609,251 (GRCm39) V824A probably benign Het
Armc12 A T 17: 28,751,410 (GRCm39) K135* probably null Het
Aup1 C T 6: 83,032,910 (GRCm39) Q215* probably null Het
AW146154 G A 7: 41,129,935 (GRCm39) R394C probably benign Het
Canx T G 11: 50,202,531 (GRCm39) D25A possibly damaging Het
Ccnf A G 17: 24,443,989 (GRCm39) L593P probably damaging Het
Cd40 A T 2: 164,898,695 (GRCm39) I41F unknown Het
Cdh1 C T 8: 107,384,405 (GRCm39) A291V probably benign Het
Cdhr2 A T 13: 54,878,883 (GRCm39) I963F probably damaging Het
Cenpe G A 3: 134,949,479 (GRCm39) G88D probably damaging Het
Cep295 T A 9: 15,233,882 (GRCm39) T2305S possibly damaging Het
Cimap1a A T 7: 140,430,215 (GRCm39) T201S probably benign Het
Clcn4 T C 7: 7,299,758 (GRCm39) R24G probably damaging Het
Cnot7 T C 8: 40,960,514 (GRCm39) N98S possibly damaging Het
Defa3 T G 8: 21,778,288 (GRCm39) C91G probably damaging Het
Dennd2c T C 3: 103,072,446 (GRCm39) F844L probably damaging Het
Dido1 T C 2: 180,302,705 (GRCm39) D1733G probably benign Het
Dnah7b G A 1: 46,263,866 (GRCm39) W2116* probably null Het
Dnaja3 T C 16: 4,502,131 (GRCm39) V45A probably benign Het
Efcab7 T A 4: 99,717,615 (GRCm39) S11T unknown Het
Enpp2 T A 15: 54,710,697 (GRCm39) K744N probably damaging Het
Fam171b CCAGCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGCAGC 2: 83,643,218 (GRCm39) probably benign Het
Fdxacb1 T G 9: 50,680,135 (GRCm39) F107C probably damaging Het
Fnbp1 A T 2: 30,926,606 (GRCm39) Y433N probably damaging Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gm15446 T A 5: 110,088,306 (GRCm39) Y6* probably null Het
Gm45140 T C 6: 87,796,551 (GRCm39) H66R Het
Grin3b G A 10: 79,812,868 (GRCm39) R981Q unknown Het
Ipp T G 4: 116,368,053 (GRCm39) I95M probably benign Het
Iqca1 A G 1: 89,973,466 (GRCm39) F769L probably damaging Het
Jkamp C T 12: 72,136,832 (GRCm39) L67F probably damaging Het
Llgl2 T A 11: 115,744,112 (GRCm39) M773K probably damaging Het
Man2b1 A G 8: 85,823,674 (GRCm39) T973A probably benign Het
Mcm2 T C 6: 88,869,039 (GRCm39) Y271C probably damaging Het
Msl2 T C 9: 100,978,159 (GRCm39) S178P probably benign Het
Myo7a G T 7: 97,732,833 (GRCm39) S648* probably null Het
Neurl1b G T 17: 26,651,201 (GRCm39) V158F probably damaging Het
Nkain2 A G 10: 32,766,034 (GRCm39) V142A unknown Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Oma1 A T 4: 103,176,232 (GRCm39) probably benign Het
Or10ag58 A T 2: 87,265,364 (GRCm39) N178Y possibly damaging Het
Or5aq7 A G 2: 86,938,411 (GRCm39) Y107H probably damaging Het
Plekhg6 T C 6: 125,340,009 (GRCm39) T784A probably benign Het
Prtg T C 9: 72,752,265 (GRCm39) I217T probably benign Het
Ptx4 T C 17: 25,341,753 (GRCm39) F76S probably damaging Het
Rap1b A C 10: 117,657,514 (GRCm39) I55S probably damaging Het
Sftpd T C 14: 40,894,538 (GRCm39) T294A probably benign Het
Spg11 C T 2: 121,943,637 (GRCm39) V172I probably benign Het
Srms T A 2: 180,848,751 (GRCm39) H363L probably damaging Het
Tbc1d13 A T 2: 30,037,415 (GRCm39) M266L probably damaging Het
Tdg A T 10: 82,474,627 (GRCm39) Q39L probably benign Het
Tiam1 G A 16: 89,586,146 (GRCm39) A1547V probably benign Het
Trpm1 A G 7: 63,858,718 (GRCm39) E380G possibly damaging Het
Unc13b T G 4: 43,177,597 (GRCm39) D2808E unknown Het
Usp25 A T 16: 76,865,943 (GRCm39) D287V possibly damaging Het
Zfp648 A T 1: 154,079,862 (GRCm39) Q7L probably benign Het
Zfp931 T C 2: 177,709,709 (GRCm39) R226G probably benign Het
Zfyve9 T A 4: 108,542,215 (GRCm39) E201D probably benign Het
Other mutations in Tbc1d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00714:Tbc1d2 APN 4 46,649,745 (GRCm39) missense probably benign 0.04
IGL01748:Tbc1d2 APN 4 46,616,306 (GRCm39) missense probably damaging 0.99
IGL01863:Tbc1d2 APN 4 46,607,064 (GRCm39) missense possibly damaging 0.66
IGL02014:Tbc1d2 APN 4 46,649,778 (GRCm39) missense possibly damaging 0.83
IGL02025:Tbc1d2 APN 4 46,620,713 (GRCm39) missense probably damaging 1.00
IGL02551:Tbc1d2 APN 4 46,649,916 (GRCm39) missense probably benign
IGL02571:Tbc1d2 APN 4 46,628,370 (GRCm39) missense probably benign 0.00
IGL03149:Tbc1d2 APN 4 46,637,619 (GRCm39) missense probably benign 0.31
R0347:Tbc1d2 UTSW 4 46,620,574 (GRCm39) missense possibly damaging 0.82
R0374:Tbc1d2 UTSW 4 46,649,913 (GRCm39) missense possibly damaging 0.95
R0522:Tbc1d2 UTSW 4 46,649,806 (GRCm39) missense probably damaging 1.00
R0883:Tbc1d2 UTSW 4 46,609,003 (GRCm39) nonsense probably null
R1227:Tbc1d2 UTSW 4 46,620,629 (GRCm39) missense probably benign 0.00
R1464:Tbc1d2 UTSW 4 46,606,491 (GRCm39) missense possibly damaging 0.51
R1464:Tbc1d2 UTSW 4 46,606,491 (GRCm39) missense possibly damaging 0.51
R1658:Tbc1d2 UTSW 4 46,614,207 (GRCm39) missense probably damaging 1.00
R1959:Tbc1d2 UTSW 4 46,606,419 (GRCm39) missense probably benign 0.44
R2108:Tbc1d2 UTSW 4 46,637,652 (GRCm39) missense possibly damaging 0.62
R3864:Tbc1d2 UTSW 4 46,620,484 (GRCm39) missense probably benign 0.01
R4475:Tbc1d2 UTSW 4 46,609,080 (GRCm39) missense possibly damaging 0.92
R5112:Tbc1d2 UTSW 4 46,606,503 (GRCm39) missense probably damaging 1.00
R5127:Tbc1d2 UTSW 4 46,633,639 (GRCm39) intron probably benign
R5215:Tbc1d2 UTSW 4 46,614,006 (GRCm39) missense probably benign 0.42
R5475:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R5550:Tbc1d2 UTSW 4 46,646,138 (GRCm39) missense probably benign 0.00
R5558:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R5564:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R5599:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R5600:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R5699:Tbc1d2 UTSW 4 46,616,298 (GRCm39) missense probably benign 0.31
R5866:Tbc1d2 UTSW 4 46,637,715 (GRCm39) missense possibly damaging 0.80
R5909:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R5911:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R5980:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6194:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6195:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6209:Tbc1d2 UTSW 4 46,614,068 (GRCm39) missense probably damaging 1.00
R6211:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6232:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6242:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6261:Tbc1d2 UTSW 4 46,637,692 (GRCm39) missense possibly damaging 0.47
R6273:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6274:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6285:Tbc1d2 UTSW 4 46,615,045 (GRCm39) missense possibly damaging 0.49
R6333:Tbc1d2 UTSW 4 46,620,736 (GRCm39) missense possibly damaging 0.64
R6369:Tbc1d2 UTSW 4 46,614,420 (GRCm39) missense probably benign 0.41
R6912:Tbc1d2 UTSW 4 46,649,712 (GRCm39) missense probably damaging 1.00
R7428:Tbc1d2 UTSW 4 46,649,965 (GRCm39) missense probably benign 0.02
R7775:Tbc1d2 UTSW 4 46,637,746 (GRCm39) splice site probably null
R7824:Tbc1d2 UTSW 4 46,637,746 (GRCm39) splice site probably null
R8135:Tbc1d2 UTSW 4 46,609,071 (GRCm39) missense probably benign 0.31
R8203:Tbc1d2 UTSW 4 46,606,476 (GRCm39) missense probably damaging 1.00
R8271:Tbc1d2 UTSW 4 46,649,791 (GRCm39) missense possibly damaging 0.88
R8690:Tbc1d2 UTSW 4 46,615,106 (GRCm39) missense possibly damaging 0.95
R9025:Tbc1d2 UTSW 4 46,607,062 (GRCm39) missense probably damaging 1.00
R9236:Tbc1d2 UTSW 4 46,609,029 (GRCm39) missense probably benign 0.08
R9622:Tbc1d2 UTSW 4 46,609,065 (GRCm39) missense probably damaging 1.00
R9776:Tbc1d2 UTSW 4 46,650,007 (GRCm39) missense probably benign 0.00
X0023:Tbc1d2 UTSW 4 46,615,037 (GRCm39) missense probably benign 0.00
X0063:Tbc1d2 UTSW 4 46,606,492 (GRCm39) missense probably damaging 1.00
Z1177:Tbc1d2 UTSW 4 46,650,016 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TAAAAGGAGTCCCTCACCCTTG -3'
(R):5'- GTCCCTAAGAAACTCTGTGGG -3'

Sequencing Primer
(F):5'- AGCTAAGTGGGACAGCTCC -3'
(R):5'- GTATTTAAGTAAGTTTGGCGGCAAAG -3'
Posted On 2020-01-23